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https://www.readbyqxmd.com/read/27917225/abdominal-epilepsy-as-an-unusual-cause-of-abdominal-pain-a-case-report
#1
Yilmaz Yunus, Ustebay Sefer, Ulker Ustebay Dondu, Ozanli Ismail, Ehi Yusuf
INTRODUCTION: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. OBJECTIVES: In this article, we report on 5 year old girl patient with abdominal epilepsy. METHODS: Some investigations (stool investigation, routine blood tests, ultrasonography (USG), electrocardiogram (ECHO) and electrocardiograpy (ECG), holter for 24hr.) were done to understand the origin of these complaints; but no abnormalities were found...
September 2016: African Health Sciences
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#2
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27895568/feasibility-of-a-mobile-cognitive-intervention-in-childhood-absence-epilepsy
#3
Peter Glynn, Soyong Eom, Frank Zelko, Sookyong Koh
Children with childhood absence epilepsy (CAE) frequently present with cognitive comorbidities and school performance concerns. The present study evaluated the feasibility of an intervention for such comorbidities using a mobile cognitive therapy application on an iPad. Eight children with CAE and school concerns aged 7-11 participated in a 4-week intervention. They were asked to use the application for 80 min per week (20 min/day, 4 times/week). Parents and children completed satisfaction surveys regarding the application...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27894304/brain-inflammation-is-accompanied-by-peripheral-inflammation-in-cstb-mice-a-model-for-progressive-myoclonus-epilepsy
#4
Olesya Okuneva, Zhilin Li, Inken Körber, Saara Tegelberg, Tarja Joensuu, Li Tian, Anna-Elina Lehesjoki
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb (-/-) ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice show early microglial activation that precedes seizure onset and neuronal loss and leads to neuroinflammation. We here characterized the inflammatory phenotype of Cstb (-/-) mice in more detail...
November 28, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27891419/evaluation-of-hospitalized-intractable-epileptic-children-with-spect-scan-in-ahvaz-south-west-of-iran
#5
Ali Akbar Momen, Faramarz Ahmadi, Arash Malekian, Hannaneh Davoodzadeh, Hossein Kabirinia
INTRODUCTION: Seizures are the most frequent neurologic disorder seen in childhood. Epilepsy is a group of disorders that includes an abnormally increased susceptibility to seizures. AIM: To examine the effectiveness of SPECT (Single Photon Emission Computerized Tomography) in detecting seizure foci in 21 Iranian children who had medically refractory epilepsy. MATERIALS AND METHODS: Children between 2 to 15 years of age with uncontrolled seizures were investigated using SPECT scan as a standardized protocol...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27880966/age-dependency-of-location-of-epileptic-foci-in-continuous-spike-and-waves-during-sleep-a-parallel-to-the-posterior-anterior-trajectory-of-slow-wave-activity
#6
Bigna Katrin Bölsterli Heinzle, Thomas Bast, Hanne Critelli, Reto Huber, Bernhard Schmitt
Background Epileptic encephalopathy with continuous spike-and-waves during sleep (CSWS) occurs during childhood and is characterized by an activation of spike wave complexes during slow wave sleep. The location of epileptic foci is variable, as is etiology. A relationship between the epileptic focus and age has been shown in various focal epilepsies following a posterior-anterior trajectory, and a link to brain maturation has been proposed.We hypothesize that in CSWS, maximal spike wave activity, corresponding to the epileptic focus, is related to age and shows a posterior-anterior evolution...
November 23, 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27875923/age-of-onset-of-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis-the-effect-of-apolipoprotein-e-and-febrile-seizures
#7
Bárbara Leal, João Chaves, Cláudia Carvalho, Andreia Bettencourt, Joel Freitas, João Lopes, João Ramalheira, Paulo P Costa, Denisa Mendonça, António M Silva, Berta M Silva
PURPOSE: Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) is the most frequent pharmaco-resistant epilepsy. It has been associated with febrile seizures (FS) in childhood. Its aetiology remains unclear but genetic factors are involved. Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoEϵ4 is an isoform of ApoE with altered protein function, previously associated with refractoriness and early onset epilepsy...
November 22, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27871429/novel-sacs-mutations-associated-with-intellectual-disability-epilepsy-and-widespread-supratentorial-abnormalities
#8
Zafar Ali, Joakim Klar, Mohammad Jameel, Kamal Khan, Ambrin Fatima, Raili Raininko, Shahid Baig, Niklas Dahl
We describe eight subjects from two consanguineous families segregating with autosomal recessive childhood onset spastic ataxia, peripheral neuropathy and intellectual disability. The degree of intellectual disability varied from mild to severe and all four affected individuals in one family developed aggressive behavior and epilepsy. Using exome sequencing, we identified two novel truncating mutations (c.2656C>T (p.Gln886*)) and (c.4756_4760delAATCA (p.Asn1586Tyrfs*3)) in the SACS gene responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27864268/de-novo-gabrg2-mutations-associated-with-epileptic-encephalopathies
#9
Dingding Shen, Ciria C Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N Datta, Steffen Leiz, Steffi Patzer, Rainer Boor, Kerri Ramsey, Ethan Goldberg, Ingo Helbig, Xilma R Ortiz-Gonzalez, Johannes R Lemke, Eric D Marsh, Robert L Macdonald
Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies with medication-resistant seizures and poor developmental outcomes. Many epileptic encephalopathies have a genetic aetiology and are often associated with de novo mutations in genes mediating synaptic transmission, including GABAA receptor subunit genes. Recently, we performed next generation sequencing on patients with a spectrum of epileptic encephalopathy phenotypes, and we identified five novel (A106T, I107T, P282S, R323W and F343L) and one known (R323Q) de novo GABRG2 pathogenic variants (mutations) in eight patients...
November 17, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27861775/prevalence-of-juvenile-myoclonic-epilepsy-in-people-30-years-of-age-a-population-based-study-in-norway
#10
Marte Syvertsen, Morten Kristoffer Hellum, Gunnar Hansen, Astrid Edland, Karl Otto Nakken, Kaja Kristine Selmer, Jeanette Koht
OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age...
November 16, 2016: Epilepsia
https://www.readbyqxmd.com/read/27856781/parental-rheumatoid-arthritis-and-childhood-epilepsy-a-nationwide-cohort-study
#11
Ane Lilleøre Rom, Chun Sen Wu, Jørn Olsen, Damini Jawaheer, Merete Lund Hetland, Jakob Christensen, Bent Ottesen, Lina Steinrud Mørch
OBJECTIVE: To assess the influence of parental rheumatoid arthritis (RA) on risk of epilepsy. METHODS: We performed a nationwide cohort study including all singletons born in Denmark from 1977 to 2008 (n = 1,917,723) through individual linkage to nationwide Danish registries. The children were followed for an average of 16 years. Main outcome measures were adjusted hazard ratios (HRs) for epilepsy with onset in early childhood (29 days-4 years), late childhood (5-15 years), adolescence/adulthood (≥15 years), and at any age until the end of follow-up (December 31, 2010)...
November 16, 2016: Neurology
https://www.readbyqxmd.com/read/27852007/apc-conditional-knock-out-mouse-is-a-model-of-infantile-spasms-with-elevated-neuronal-%C3%AE-catenin-levels-neonatal-spasms-and-chronic-seizures
#12
Antonella Pirone, Jon Alexander, Lauren A Lau, David Hampton, Andrew Zayachkivsky, Amy Yee, Audrey Yee, Michele H Jacob, Chris G Dulla
Infantile spasms (IS) are a catastrophic childhood epilepsy syndrome characterized by flexion-extension spasms during infancy that progress to chronic seizures and cognitive deficits in later life. The molecular causes of IS are poorly defined. Genetic screens of individuals with IS have identified multiple risk genes, several of which are predicted to alter β-catenin pathways. However, evidence linking malfunction of β-catenin pathways and IS is lacking. Here, we show that conditional deletion in mice of the adenomatous polyposis coli gene (APC cKO), the major negative regulator of β-catenin, leads to excessive β-catenin levels and multiple salient features of human IS...
November 13, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27847129/a-ten-year-follow-up-cohort-study-of-childhood-epilepsy-changes-in-epilepsy-diagnosis-with-age
#13
Yoshiyuki Hanaoka, Harumi Yoshinaga, Katsuhiro Kobayashi
OBJECTIVE: To elucidate all of the characteristics of childhood epilepsy, we performed a long-term follow-up study on the patients who visited Okayama University Hospital. SUBJECTS AND METHODS: We retrospectively investigated the patients who were involved in the previous epidemiological study and visited Okayama University Hospital for a period of 10years after December 31, 1999. RESULTS: Overall, there were 350 patients' medical records that were evaluated, and 258 patients with complete clinical information available for a 10-year period were enrolled...
November 12, 2016: Brain & Development
https://www.readbyqxmd.com/read/27844444/exome-sequencing-identifies-a-novel-homozygous-cln8-mutation-in-a-turkish-family-with-northern-epilepsy
#14
Yavuz Sahin, Olcay Güngör, Zeliha Gormez, Huseyin Demirci, Bekir Ergüner, Gülay Güngör, Cengiz Dilber
Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL...
November 14, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27843043/hyperekplexia-report-on-phenotype-and-genotype-of-16-jordanian-patients
#15
Amira Masri, Seo-Kyung Chung, Mark I Rees
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. OBJECTIVE: To describe the clinical and genetic features of hyperekplexia in Jordanian patients. METHODS: This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015...
November 11, 2016: Brain & Development
https://www.readbyqxmd.com/read/27835781/epilepsy-and-its-impact-on-psychosocial-outcomes-in-canadian-children-data-from-the-national-longitudinal-study-of-children-and-youth-nlscy
#16
A N Prasad, B Corbett
PURPOSE: The purpose of this study was to use data from a population-based survey to evaluate the association between childhood epilepsy and social outcomes through tests of mathematics skills, and sense of general self-esteem (GSS). METHODS: Using data from Cycles 1 to 8 of the National Longitudinal Survey of Children and Youth (NLSCY), Hierarchical linear modeling (HLM) was used to compare baseline math scores and changes in math scores and sense of general self esteem (GSS) over time in children with and without epilepsy...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27830114/disruptions-in-cortico-subcortical-covariance-networks-associated-with-anxiety-in-new-onset-childhood-epilepsy
#17
Camille Garcia-Ramos, Jack J Lin, Leonardo Bonilha, Jana E Jones, Daren C Jackson, Vivek Prabhakaran, Bruce P Hermann
Anxiety disorders represent a prevalent psychiatric comorbidity in both adults and children with epilepsy for which the etiology remains controversial. Neurobiological contributions have been suggested, but only limited evidence suggests abnormal brain volumes particularly in children with epilepsy and anxiety. Since the brain develops in an organized fashion, covariance analyses between different brain regions can be investigated as a network and analyzed using graph theory methods. We examined 46 healthy children (HC) and youth with recent onset idiopathic epilepsies with (n = 24) and without (n = 62) anxiety disorders...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27824801/parent-perceptions-of-family-social-supports-in-families-with-children-with-epilepsy
#18
Kim A Decker, Wendy R Miller, Janice M Buelow
PURPOSE AND BACKGROUND: When a child is diagnosed with epilepsy, not only has the child's life been disrupted but also the family's sense of normalcy. Although there is considerable literature discussing family concerns and social support issues in families with chronically ill children, a major gap lies in the exploration of how the specifics of childhood epilepsy affect parents and family operations. The purpose of this study was to identify psychosocial care needs of parents of children with epilepsy...
December 2016: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/27823947/coexisting-neuronal-autoantibodies-among-children-with-demyelinating-syndromes
#19
Hikmet Kıztanır, Gonca Bektaş, Edibe Pembegül Yıldız, Tuğçe Aksu Uzunhan, Burak Tatlı, Nur Aydınlı, Mine Çalışkan, Meral Özmen
OBJECTIVES: To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes. METHODS: We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls. Prior to initiating immunomodulatory therapy, serum samples were tested for antibodies against NMDAR, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) 1, AMPAR2, leucine-rich glioma-activated protein 1, contactin-associated protein 2, gamma-aminobutyric acid B receptors, paraneoplastic ma antigen 2 (PNMA2/Ta), Yo, Ri, Hu, CV2, amphiphysin, and aquaporin-4 by indirect immunofluorescence assays...
November 4, 2016: Brain & Development
https://www.readbyqxmd.com/read/27822696/the-effects-of-risk-factors-on-eeg-and-seizure-in-children-with-adhd
#20
Ayşe Kartal, Erhan Aksoy, Gülhis Deda
Attention-deficit hyperactivity disorder (ADHD) is one of the most commonly seen developmental disorders in childhood. Its etiology, however, is not well known even though bio-psycho-social reasons have been thought to play a big role. The aims of this retrospective study are to identify the risk factors of ADHD in patients diagnosed with ADHD in childhood, analyze the relationship between clinical symptoms and risk factors to which they were exposed and determine their effects on prospective electrophysiological findings...
November 7, 2016: Acta Neurologica Belgica
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